ClinVar Miner

Submissions for variant NM_005633.3(SOS1):c.570C>T (p.Asp190=) (rs55980502)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756675 SCV000884558 benign not provided 2017-06-01 criteria provided, single submitter clinical testing
ClinGen RASopathy Variant Curation Expert Panel RCV000467119 SCV000616523 benign Rasopathy 2017-04-18 reviewed by expert panel curation The filtering allele frequency of the c.570C>T (p.Asp190=) variant in the SOS1 gene is 0.314% (234/66628) of European chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000038565 SCV000339643 benign not specified 2016-02-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000323571 SCV000430449 uncertain significance Noonan syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000355188 SCV000430450 uncertain significance Gingival fibromatosis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000467119 SCV000563107 benign Rasopathy 2017-11-21 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000038565 SCV000062243 benign not specified 2011-06-09 criteria provided, single submitter clinical testing Asp190Asp in exon 5 of SOS1: This variant (rs55980502) is not expected to have c linical signficance because it does not alter an amino acid residue and is not l ocated near a splice junction. In addition, this variant has been identified in the unaffected parent of one proband and two probands that have pathogenic varia nts in PTPN11 tested by our laboratory.

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